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Dataset results
518 results for “Hereditary”
Case study on hereditary divergence and its impact on glaucoma
<p>The data extracted from the <a href="http://Disgenet.org/">DisGeNET </a>database are processed using available open sources tools (VEP, polyphen, SIFT, and ClueGo). The process of data analysis is given in the book chapter.</p>
Data files for manuscript "Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study"
<p>#2021-09-19<br> #Summary<br> This ZIP-file contains the Excel files used for all analyses for the manuscript "Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study".</p> <p><br> #File structure<br> README.txt This README file.<br> File S1 ("FileS1_GCKD-ADTKD.cohort.xlsx") Cohort characteristics, sequencing quality parameters and fingerprinting results.<br> File S2 ("FileS2_GCKD-ADTKD.content.xlsx") Sequencing panel design/ content with information on gene domains used for Figure 2.<br> File S3 ("FileS3_GCKD-ADTKD.variants.xlsx") Information on small variants, CNVs and MUC1 analyses (SNaPshot and adVNTR).<br> File S4 ("FileS4_GCKD-ADTKD.simulation.xlsx") Curated variant and individual data from the Groopman study with results of the simulation for Figure 4.</p> <p><br> #Files and checksums<br> 2D6184BC145987D3EE2E0DC6873DDDDB ./README.txt<br> 10EE4C3C9D9ED6417647F26A09583820 ./FileS1_GCKD-ADTKD.cohort.xlsx<br> 9F95661845215FB7875EB053F887AB36 ./FileS2_GCKD-ADTKD.content.xlsx<br> 2AC19FBC6103CB48905F64716428AE5B ./FileS3_GCKD-ADTKD.variants.xlsx<br> 2D6184BC145987D3EE2E0DC6873DDDDB ./FileS4_GCKD-ADTKD.simulation.xlsx</p>
CSL312 (Garadacimab) in the Prevention of Hereditary Angioedema Attacks
ClinicalTrials.gov study NCT04656418. IPD Sharing: YES. Countries: 7. Publications: 2.
A Study of Lanadelumab to Prevent Hereditary Angioedema (HAE) Attacks in Children
ClinicalTrials.gov study NCT04070326. IPD Sharing: YES. Countries: 5. Publications: 1.
Long-term Safety and Efficacy of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema Attacks
ClinicalTrials.gov study NCT04739059. IPD Sharing: YES. Countries: 14. Publications: 0.
Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema
ClinicalTrials.gov study NCT02584959. IPD Sharing: YES. Countries: 7. Publications: 2.
A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema
ClinicalTrials.gov study NCT01386658. IPD Sharing: YES. Countries: 10. Publications: 1.
An Extension Study of Donidalorsen (IONIS-PKK-LRx) in Participants With Hereditary Angioedema
ClinicalTrials.gov study NCT04307381. IPD Sharing: YES. Countries: 2. Publications: 1.
OASIS-HAE: A Study to Evaluate the Safety and Efficacy of Donidalorsen (ISIS 721744 or IONIS-PKK-LRx) in Participants With Hereditary Angioedema (HAE)
ClinicalTrials.gov study NCT05139810. IPD Sharing: YES. Countries: 14. Publications: 1.
Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema
ClinicalTrials.gov study NCT02052141. IPD Sharing: YES. Countries: 5. Publications: 3.
Data from: Screening familial risk for hereditary breast and ovarian cancer
Open the record for dataset details and reuse information.
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids
<p><strong>Figure 1:</strong> Family pedigree. The arrow indicates the proband (present patient). Her mother developed a motor disorder at 40 years of age and died at 60 years of age. Her grandparents, father, brothers, sisters, and daughters were not affected.</p> <p><strong>Figure 2: Brain MRI, DWI, DTI, and MRS images. T2/Flair showed multifocal periventricular white matter lesions (A, B, and C), without enhancement (D). DWI shows high-signal intensities in periventricular white matters and corpus callosum (E, F). DTI shows decreased numbers of corpus callosum fibers, while subcortical arcuate fibers are spared (G). MRS shows increased Cho levels, while NAA levels are decreased in the white matter lesions (H, I).</strong></p> <p><strong>Figure 3: </strong>Optic nerves on MRI, showing that bilateral optic nerves are injured (red arrows). </p> <p><strong>Figure 4: </strong>OCT shows that the right peripapillary retinal nerve fiber layer (pRNFL) is atrophic in the temporal quadrant, and the left pRNFL is thinning in the temporal superior quadrants. Green represents pRNFL thickness, which is within normal limits; yellow represents pRNFL thickness, which is below borderline; red represents pRNFL thickness, which is below normal limits.</p> <p><strong>Figure 5:</strong> VEP shows reduced bilateral P100 amplitudes, although P100 latencies are normal in both eyes.</p> <p><strong>Figure 6:</strong> Visual fields in the right eye are partially missing in the upper right, lower right, and lower left quadrants, especially in the lower right quadrant. Visual fields in the left eye are partially missing in the four quadrants, especially in the upper left and lower right quadrants.</p> <p><strong>Figure 7:</strong> Gene analysis of <em>CSF1R</em>. The sequencing result from exon 18 of <em>CSF1R</em> (NM_005211.3) indicates a heterozygous c.2345 G>A (p.782Arg>His) substitution in the patient.</p>
Genetic variants affecting NQO1 protein levels impact on efficacy of idebenone treatment in Leber hereditary optic neuropathy
<p>Fastq files with complete sequencing of NQO1 gene after PCR amplification for cell lines harboring m.11778G>A/MT-ND4 or m.3460A>G/MT-ND1 and controls.</p>
Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber's Hereditary Optic Neuropathy. RAW DATA
<p>Raw data used to prepare Figures and Tables in article "Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy", accepted for publication at International Journal of Environmental Research and Public Health, 27 May 2022.</p>
Systematic spatio-temporal mapping reveals divergent cell death pathways in three mouse models of hereditary retinal degeneration
<p>Values for immuohistochemical analysis or enzymatic analysis of various markers theorised to have roles in retinal dystrophies in three models of mouse retinal degeneration with a control. Analysis has been broken down by marker, mouseline, age and region of the retina recorded from</p>
Is Social Training Delivered with a Head-Mounted Display Suitable for Patients with Hereditary Ataxia?
<p>This dataset is related to 10 patients with different types of hereditary ataxia who performed a single VR-SPIRIT training session using the Oculus Quest, a Head Mounted Display. The VR- Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) is a rehabilitative intervention in virtual reality (VR) targeting social prediction to improve the use of contextual priors during prediction of others’ intentions in cerebellar patients. The aim here was to verify its usability and tolerability in patients with hereditary ataxia. To do this, after the session, patients answered a series of questionnaires to investigate the overall usability of the system and its potential effects in terms of cyber-sickness.</p> <p>The dataset includes a sheet related to demographic data, a sheet related to performance during the single session and one sheet for each questionnaire as follows:</p> <p>- System Usability Scale (SUS)</p> <p>- Suitability Evaluation Questionnaire (SEQ)</p> <p>- Simulator Sickness Questionnaire (SSQ)</p> <p>- Independent Television Commission-Sense of Presence Inventory (ITC-SOPI)</p> <p>- short-form of Positive Affect and Negative Affect Scales (PANAS).</p> <p>The details about data collection and all procedures are reported in the following manuscript, that we kindly ask you to cite if you use this dataset:</p> <p>Malerba, G.; Bellazzecca, S.; Urgesi, C.; Butti, N.; D’Angelo, M.G.; Diella, E.; Biffi, E. Is Social Training Delivered with a Head-Mounted Display Suitable for Patients with Hereditary Ataxia? Brain Sci. 2023, 13, 1017. https://doi.org/10.3390/ brainsci13071017</p>
Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations.
ClinicalTrials.gov study NCT00056550. IPD Sharing: Not stated. Countries: 6. Publications: 1.
Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE)
ClinicalTrials.gov study NCT00262080. IPD Sharing: Not stated. Countries: 1. Publications: 6.
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
ClinicalTrials.gov study NCT02161380. IPD Sharing: Not stated. Countries: 1. Publications: 11.
A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer
ClinicalTrials.gov study NCT01130519. IPD Sharing: YES. Countries: 1. Publications: 4.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.